Previous clinical testing included a negative RASopathy panel, but trio genome sequencing revealed a de novo serine to tryptophan change in YWHAZ at amino acid (aa) position 230, a location close to the C-terminal end and two residues away from a known casein kinase phosphorylation site at T232 (Supplementary Table 1). The gene discussed is PDIK1L; the disease is RASopathy.